Varaico: Literature-Extracted Genetic Variants

CBS

891 papers

RefSeq Summary

The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterical...

Pfam Domains

PALPaa 80–376UCSCPyridoxal-phosphate dependent enzyme

CBSaa 414–470UCSCCBS domain

Gene Aliases

HGNC Name

cystathionine beta-synthase

HGNC Alias Symbol

HIP4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000071.3

p.Q298H

c.894G>T

Surrounding Variants

3 papers

NM_000071.3

p.Q298insFs

c.892_893insC

1 paper

NM_000071.3

p.Q298fs

c.892_893fs

1 paper

NM_000071.3

p.T296M

c.887C>T

1 paper

NM_000071.3

p.T296R

c.887C>G

1 paper

NM_000071.3

p.Y301Y

c.903C>T

21 papers

NM_000071.3

p.E302K

c.904G>A

2 papers

NM_000071.3

p.L293V

c.877C>G

1 paper

NM_000071.3

p.G305W

c.913G>T

12 papers

NM_000071.3

p.G305R

c.913G>C

13 papers

NM_000071.3

p.G305R

c.913G>A

1 paper

NM_000071.3

p.E292V

c.875A>T

1 paper

NM_000071.3

p.G305E

c.914G>A